Canonical Allele Identifier: CA382804758
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1950527483

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503115C>A , CM000673.2:g.118503115C>A GRCh38
NC_000011.9:g.118373830C>A , CM000673.1:g.118373830C>A GRCh37
NC_000011.8:g.117879040C>A NCBI36
NG_027813.1:g.71626C>A , LRG_613:g.71626C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7322C>A ENSP00000432391.3:p.Ser2441Tyr
ENST00000710560.1:c.7313C>A ENSP00000518343.1:p.Ser2438Tyr
ENST00000649878.2:c.1262C>A ENSP00000497891.2:p.Ser421Tyr
ENST00000685397.1:c.1262C>A ENSP00000509586.1:p.Ser421Tyr
ENST00000686370.1:c.1262C>A ENSP00000509179.1:p.Ser421Tyr
ENST00000689424.1:c.1520C>A ENSP00000509852.1:p.Ser507Tyr
ENST00000691053.1:c.7295C>A ENSP00000509168.1:p.Ser2432Tyr
ENST00000389506.10:c.7214C>A ENSP00000374157.5:p.Ser2405Tyr
ENST00000528278.2:n.6565C>A
ENST00000534358.8:c.7223C>A MANE Select ENSP00000436786.2:p.Ser2408Tyr
ENST00000649699.1:c.7100C>A ENSP00000496927.1:p.Ser2367Tyr
ENST00000389506.9:c.7214C>A ENSP00000374157.5:p.Ser2405Tyr
ENST00000528278.1:n.1350C>A
ENST00000534358.5:c.7223C>A ENSP00000436786.1:p.Ser2408Tyr
NM_001197104.1:c.7223C>A , LRG_613t1:c.7223C>A NP_001184033.1:p.Ser2408Tyr
NM_005933.3:c.7214C>A NP_005924.2:p.Ser2405Tyr
XM_006718839.2:c.4706C>A XP_006718902.2:p.Ser1569Tyr
XM_011542829.1:c.7322C>A XP_011541131.1:p.Ser2441Tyr
XM_011542830.1:c.7319C>A XP_011541132.1:p.Ser2440Tyr
XM_011542831.1:c.7313C>A XP_011541133.1:p.Ser2438Tyr
XM_011542832.1:c.5129C>A XP_011541134.1:p.Ser1710Tyr
XM_011542833.1:c.4805C>A XP_011541135.1:p.Ser1602Tyr
XM_006718839.3:c.4706C>A XP_006718902.2:p.Ser1569Tyr
XM_011542829.2:c.7322C>A XP_011541131.1:p.Ser2441Tyr
XM_011542830.2:c.7319C>A XP_011541132.1:p.Ser2440Tyr
XM_011542831.2:c.7313C>A XP_011541133.1:p.Ser2438Tyr
XM_011542833.2:c.4805C>A XP_011541135.1:p.Ser1602Tyr
NM_001197104.2:c.7223C>A MANE Select NP_001184033.1:p.Ser2408Tyr
NM_005933.4:c.7214C>A NP_005924.2:p.Ser2405Tyr